A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F [0.03%]
匈牙利LGMD1F家系TNPO3新致病突变筛查及报告
Endre Pál,Judith Zima,Kinga Hadzsiev et al.
Endre Pál et al.
Limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous muscular diseases that predominantly affect the proximal muscles. Pathogenic variants in TNPO3 have been associated with a rare, autosomal dominant limb-girdl...
Homozygous deletion of the entire AAAS gene in a triple A syndrome patient [0.03%]
Triple A综合征患者AAAS基因完整纯合缺失突变的一家系研究
Katrin Koehler,Karl Hackmann,Dana Landgraf et al.
Katrin Koehler et al.
Triple A syndrome, a multisystemic autosomal recessive disease, is characterized by the clinical triad of adrenal insufficiency, alacrima and achalasia in combination with progressive neurological impairments. The disorder is caused by homo...
Gizem Ürel-Demir,Ekim Zihni Taşkıran,Özlem Akgün-Doğan et al.
Gizem Ürel-Demir et al.
Ophthalmo-acromelic syndrome is a rare autosomal recessive disorder characterized by ocular and skeletal abnormalities. Ocular findings present as a wide spectrum, ranging from mild microphthalmia to true anophthalmia. Short 5th finger, syn...
Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorate disease-like phenotypes in embryo [0.03%]
斑马鱼CHARGE综合征模型的化学筛选鉴别出缓解胚胎疾病样表型的小分子
Zainab Asad,Chetana Sachidanandan
Zainab Asad
CHARGE syndrome is an autosomal dominant congenital disorder caused primarily by mutations in the CHD7 gene. Using a small molecule screen in a zebrafish model of CHARGE syndrome, we identified 4 compounds that rescue embryos from disease-l...
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene [0.03%]
ZNHIT3基因复合杂合变异所致的PEHO综合征病例报告
Katrin Õunap,Kai Muru,Eve Õiglane-Shlik et al.
Katrin Õunap et al.
PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A homozygous missense substitution p.Ser31Leu in ZNHIT3 was recently identified as th...
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms [0.03%]
BCOR突变所致女性先天性白内障的临床表型变异及遗传机制研究报告6例新家系
A Redwood,S Douzgou,S Waller et al.
A Redwood et al.
Background: Pathogenic variants in the BCOR gene have been identified in males with X-linked recessive microphthalmia and in females with X-linked dominant oculofaciocardiodental (OFCD) syndrome. This latter condition has...
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype [0.03%]
FGFR3基因中p.Ser348Cys突变导致的"轻型ACH/重型HCH"表型
Fuat Baris Bengur,Cumhur Gokhan Ekmekci,Ercan Karaarslan et al.
Fuat Baris Bengur et al.
Achondroplasia (ACH) and hypochondroplasia (HCH) are genetic bone disorders known to be caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Both conditions share radiographic and phenotypical featur...
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type [0.03%]
LGMD1D型肢带肌营养不良症的家族内变异
Judith Zima,Alison Eaton,Endre Pál et al.
Judith Zima et al.
LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized by moderately progressive proximal muscle weakness without respiratory or bulbar i...
Exome-based search for recurrent disease-causing alleles in Russian population [0.03%]
基于外显子组的俄罗斯人群反复致病突变基因型的研究
Grigoriy A Yanus,Tatiana A Akhapkina,Aldon J Whitehead et al.
Grigoriy A Yanus et al.
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar dat...
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform [0.03%]
单平台并发验证多基因和单基因疾病、结构重排以及整倍体和片段染色体非整倍体的植入前遗传学检测的有效性
Nathan R Treff,Raymond Zimmerman,Elan Bechor et al.
Nathan R Treff et al.
Preimplantation genetic testing (PGT) has been successfully applied to reduce the risk of miscarriage, improve IVF success rates, and prevent inheritance of monogenic disease and unbalanced translocations. The present study provides the fir...